Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Saved in:
| Title: | Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. |
|---|---|
| Authors: | Cooley Coleman JA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA., Bend R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Annese F; Greenwood Genetic Center, Greenwood, South Carolina, USA., Stallworth J; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sanofi, Bridgewater, New Jersey, USA., Worthington J; Greenwood Genetic Center, Greenwood, South Carolina, USA., Buchanan CB; Greenwood Genetic Center, Greenwood, South Carolina, USA., Everman DB; Greenwood Genetic Center, Greenwood, South Carolina, USA., Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Spellicy CJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Myriad Genetics, Salt Lake City, Utah, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2988-2998. Date of Electronic Publication: 2022 Aug 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.62913 |
